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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ITPR1 |
 Gene summary |
| Gene information | Gene symbol | ITPR1 | Gene ID | 3708 |
| Gene name | inositol 1,4,5-trisphosphate receptor type 1 | |
| Synonyms | ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29 | |
| Cytomap | 3p26.1 | |
| Type of gene | protein-coding | |
| Description | inositol 1,4,5-trisphosphate receptor type 1IP3 receptorIP3R 1inositol 1,4,5-triphosphate receptor, type 1protein phosphatase 1, regulatory subunit 94type 1 InsP3 receptortype 1 inositol 1,4,5-trisphosphate receptor | |
| Modification date | 20180523 | |
| UniProtAcc | Q14643 | |
| Context | PubMed: ITPR1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ITPR1 | GO:0001666 | response to hypoxia | 19120137 |
| ITPR1 | GO:0050849 | negative regulation of calcium-mediated signaling | 16793548 |
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Exon skipping events across known transcript of Ensembl for ITPR1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for ITPR1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ITPR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371136 | 3 | 4535233:4535289:4536114:4536190:4558159:4558267 | 4536114:4536190 | ENSG00000150995.13 | ENST00000456211.2,ENST00000357086.4,ENST00000423119.2,ENST00000544951.1,ENST00000467056.1,ENST00000354582.6 |
| exon_skip_371137 | 3 | 4536114:4536190:4558159:4558267:4562707:4562778 | 4558159:4558267 | ENSG00000150995.13 | ENST00000456211.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000544951.1,ENST00000467056.1,ENST00000354582.6 |
| exon_skip_371139 | 3 | 4562707:4562778:4669446:4669562:4681067:4681093 | 4669446:4669562 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000544951.1,ENST00000467056.1,ENST00000354582.6 |
| exon_skip_371140 | 3 | 4669446:4669562:4681067:4681154:4683776:4683935 | 4681067:4681154 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000544951.1,ENST00000467056.1,ENST00000354582.6 |
| exon_skip_371141 | 3 | 4693806:4693902:4695525:4695570:4699807:4699962 | 4695525:4695570 | ENSG00000150995.13 | ENST00000357086.4,ENST00000423119.2,ENST00000354582.6 |
| exon_skip_371142 | 3 | 4718297:4718485:4722236:4722375:4723047:4723102 | 4722236:4722375 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371143 | 3 | 4726752:4726890:4730178:4730304:4732827:4733028 | 4730178:4730304 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371145 | 3 | 4735173:4735425:4738830:4738956:4741496:4741625 | 4738830:4738956 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371146 | 3 | 4753440:4753552:4759050:4759083:4767229:4767265 | 4759050:4759083 | ENSG00000150995.13 | ENST00000494681.1,ENST00000443694.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371153 | 3 | 4776847:4777038:4808213:4808394:4810194:4810448 | 4808213:4808394 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371156 | 3 | 4816925:4817126:4818947:4819058:4821233:4821329 | 4818947:4819058 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371159 | 3 | 4825499:4825604:4829630:4829823:4836748:4836871 | 4829630:4829823 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371161 | 3 | 4829630:4829823:4836748:4836871:4842108:4842284 | 4836748:4836871 | ENSG00000150995.13 | ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000302640.8,ENST00000354582.6 |
| exon_skip_371166 | 3 | 4856736:4856902:4859765:4859926:4878457:4878619 | 4859765:4859926 | ENSG00000150995.13 | ENST00000493491.1,ENST00000478515.1,ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000463980.1,ENST00000302640.8,ENST00000544951.1,ENST00000354582.6 |
| exon_skip_371167 | 3 | 4859765:4859926:4878457:4878619:4887822:4888147 | 4878457:4878619 | ENSG00000150995.13 | ENST00000493491.1,ENST00000456211.2,ENST00000443694.2,ENST00000357086.4,ENST00000423119.2,ENST00000463980.1,ENST00000302640.8,ENST00000544951.1,ENST00000354582.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITPR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_371136 | 3 | 4535233:4535289:4536114:4536190:4558159:4558267 | 4536114:4536190 | ENSG00000150995.13 | ENST00000354582.6,ENST00000423119.2,ENST00000467056.1,ENST00000357086.4,ENST00000456211.2,ENST00000544951.1 |
| exon_skip_371137 | 3 | 4536114:4536190:4558159:4558267:4562707:4562778 | 4558159:4558267 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000467056.1,ENST00000357086.4,ENST00000456211.2,ENST00000544951.1 |
| exon_skip_371139 | 3 | 4562707:4562778:4669446:4669562:4681067:4681093 | 4669446:4669562 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000467056.1,ENST00000357086.4,ENST00000456211.2,ENST00000544951.1,ENST00000443694.2 |
| exon_skip_371140 | 3 | 4669446:4669562:4681067:4681154:4683776:4683935 | 4681067:4681154 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000467056.1,ENST00000357086.4,ENST00000456211.2,ENST00000544951.1,ENST00000443694.2 |
| exon_skip_371141 | 3 | 4693806:4693902:4695525:4695570:4699807:4699962 | 4695525:4695570 | ENSG00000150995.13 | ENST00000354582.6,ENST00000423119.2,ENST00000357086.4 |
| exon_skip_371142 | 3 | 4718297:4718485:4722236:4722375:4723047:4723102 | 4722236:4722375 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371143 | 3 | 4726752:4726890:4730178:4730304:4732827:4733028 | 4730178:4730304 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371145 | 3 | 4735173:4735425:4738830:4738956:4741496:4741625 | 4738830:4738956 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371146 | 3 | 4753440:4753552:4759050:4759083:4767229:4767265 | 4759050:4759083 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000443694.2,ENST00000494681.1 |
| exon_skip_371153 | 3 | 4776847:4777038:4808213:4808394:4810194:4810448 | 4808213:4808394 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371156 | 3 | 4816925:4817126:4818947:4819058:4821233:4821329 | 4818947:4819058 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371159 | 3 | 4825499:4825604:4829630:4829823:4836748:4836871 | 4829630:4829823 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371161 | 3 | 4829630:4829823:4836748:4836871:4842108:4842284 | 4836748:4836871 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000443694.2 |
| exon_skip_371166 | 3 | 4856736:4856902:4859765:4859926:4878457:4878619 | 4859765:4859926 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000544951.1,ENST00000443694.2,ENST00000493491.1,ENST00000463980.1,ENST00000478515.1 |
| exon_skip_371167 | 3 | 4859765:4859926:4878457:4878619:4887822:4888147 | 4878457:4878619 | ENSG00000150995.13 | ENST00000302640.8,ENST00000354582.6,ENST00000423119.2,ENST00000357086.4,ENST00000456211.2,ENST00000544951.1,ENST00000443694.2,ENST00000493491.1,ENST00000463980.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ITPR1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for ITPR1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for ITPR1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_371137 | 4558160 | 4558267 | 4558185 | 4558185 | Frame_Shift_Del | A | - | p.K4fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_371153 | 4808214 | 4808394 | 4808220 | 4808220 | Frame_Shift_Del | T | - | p.F1837fs |
| PRAD | TCGA-KK-A5A1-01 | exon_skip_371153 | 4808214 | 4808394 | 4808388 | 4808388 | Frame_Shift_Del | A | - | p.K1893fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_371166 | 4859766 | 4859926 | 4859872 | 4859872 | Frame_Shift_Del | A | - | p.V2643fs |
| LIHC | TCGA-DD-AACQ-01 | exon_skip_371137 | 4558160 | 4558267 | 4558209 | 4558209 | Nonsense_Mutation | G | T | p.G12X |
| DLBC | TCGA-FF-A7CR-01 | exon_skip_371142 | 4722237 | 4722375 | 4722294 | 4722294 | Nonsense_Mutation | C | T | p.R1000X |
| LIHC | TCGA-EP-A2KA-01 | exon_skip_371143 | 4730179 | 4730304 | 4730230 | 4730230 | Nonsense_Mutation | C | T | p.Q1243X |
| STAD | TCGA-BR-4184-01 | exon_skip_371153 | 4808214 | 4808394 | 4808340 | 4808340 | Nonsense_Mutation | G | T | p.G1876* |
| LGG | TCGA-P5-A731-01 | exon_skip_371159 | 4829631 | 4829823 | 4829646 | 4829646 | Nonsense_Mutation | C | T | p.R2196* |
| STAD | TCGA-F1-6177-01 | exon_skip_371159 | 4829631 | 4829823 | 4829715 | 4829715 | Nonsense_Mutation | C | T | p.R2186* |
| STAD | TCGA-F1-6177-01 | exon_skip_371159 | 4829631 | 4829823 | 4829715 | 4829715 | Nonsense_Mutation | C | T | p.R2219X |
| COAD | TCGA-AZ-4315-01 | exon_skip_371159 | 4829631 | 4829823 | 4829796 | 4829796 | Nonsense_Mutation | G | T | p.E2213X |
| THYM | TCGA-4V-A9QJ-01 | exon_skip_371166 | 4859766 | 4859926 | 4859885 | 4859885 | Nonsense_Mutation | G | T | p.E2648X |
| BLCA | TCGA-BT-A2LB-01 | exon_skip_371156 | 4818948 | 4819058 | 4818947 | 4818947 | Splice_Site | G | A | p.N2013_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BFTC905_URINARY_TRACT | 4669447 | 4669562 | 4669467 | 4669467 | Missense_Mutation | C | T | p.P62S |
| HT115_LARGE_INTESTINE | 4669447 | 4669562 | 4669499 | 4669499 | Missense_Mutation | C | A | p.F72L |
| IGROV1_OVARY | 4669447 | 4669562 | 4669503 | 4669503 | Missense_Mutation | A | G | p.K74E |
| INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4681068 | 4681154 | 4681093 | 4681093 | Missense_Mutation | A | C | p.Q102P |
| RL952_ENDOMETRIUM | 4681068 | 4681154 | 4681122 | 4681122 | Missense_Mutation | G | A | p.G112R |
| NO11_CENTRAL_NERVOUS_SYSTEM | 4722237 | 4722375 | 4722253 | 4722253 | Missense_Mutation | G | A | p.R980K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 4722237 | 4722375 | 4722321 | 4722321 | Missense_Mutation | A | T | p.T1003S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4722237 | 4722375 | 4722321 | 4722321 | Missense_Mutation | A | T | p.T1003S |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4722237 | 4722375 | 4722321 | 4722321 | Missense_Mutation | A | T | p.T1003S |
| SKGT2_STOMACH | 4730179 | 4730304 | 4730208 | 4730208 | Missense_Mutation | G | T | p.M1229I |
| DV90_LUNG | 4730179 | 4730304 | 4730245 | 4730245 | Missense_Mutation | G | T | p.G1242C |
| MIAPACA2_PANCREAS | 4738831 | 4738956 | 4738894 | 4738894 | Missense_Mutation | G | C | p.E1434Q |
| KM12_LARGE_INTESTINE | 4738831 | 4738956 | 4738942 | 4738942 | Missense_Mutation | G | T | p.V1450L |
| CCFSTTG1_CENTRAL_NERVOUS_SYSTEM | 4759051 | 4759083 | 4759063 | 4759063 | Missense_Mutation | G | A | p.D1691N |
| LN18_CENTRAL_NERVOUS_SYSTEM | 4808214 | 4808394 | 4808245 | 4808245 | Missense_Mutation | A | G | p.K1844R |
| HEC251_ENDOMETRIUM | 4808214 | 4808394 | 4808261 | 4808261 | Missense_Mutation | C | A | p.F1849L |
| HCC2998_LARGE_INTESTINE | 4808214 | 4808394 | 4808261 | 4808261 | Missense_Mutation | C | A | p.F1849L |
| PC9_LUNG | 4808214 | 4808394 | 4808277 | 4808277 | Missense_Mutation | G | C | p.D1855H |
| NCIH322_LUNG | 4808214 | 4808394 | 4808340 | 4808340 | Missense_Mutation | G | A | p.G1876R |
| NCIH889_LUNG | 4808214 | 4808394 | 4808345 | 4808345 | Missense_Mutation | T | A | p.N1877K |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4808214 | 4808394 | 4808350 | 4808350 | Missense_Mutation | A | C | p.K1879T |
| COLO699_LUNG | 4808214 | 4808394 | 4808379 | 4808379 | Missense_Mutation | C | A | p.P1889T |
| OV56_OVARY | 4818948 | 4819058 | 4818978 | 4818978 | Missense_Mutation | A | G | p.I2056V |
| COLO792_SKIN | 4818948 | 4819058 | 4819018 | 4819018 | Missense_Mutation | C | T | p.P2069L |
| CW2_LARGE_INTESTINE | 4818948 | 4819058 | 4819018 | 4819018 | Missense_Mutation | C | A | p.P2069H |
| HT115_LARGE_INTESTINE | 4829631 | 4829823 | 4829647 | 4829647 | Missense_Mutation | G | A | p.R2196Q |
| HEC251_ENDOMETRIUM | 4829631 | 4829823 | 4829691 | 4829691 | Missense_Mutation | T | G | p.F2211V |
| SNU1040_LARGE_INTESTINE | 4829631 | 4829823 | 4829716 | 4829716 | Missense_Mutation | G | A | p.R2219Q |
| SW684_SOFT_TISSUE | 4829631 | 4829823 | 4829716 | 4829716 | Missense_Mutation | G | T | p.R2219L |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4829631 | 4829823 | 4829733 | 4829733 | Missense_Mutation | G | C | p.E2225Q |
| SNU81_LARGE_INTESTINE | 4829631 | 4829823 | 4829742 | 4829742 | Missense_Mutation | G | A | p.E2228K |
| NB7_AUTONOMIC_GANGLIA | 4829631 | 4829823 | 4829763 | 4829763 | Missense_Mutation | G | A | p.D2235N |
| OC316_OVARY | 4829631 | 4829823 | 4829764 | 4829764 | Missense_Mutation | A | G | p.D2235G |
| OC314_OVARY | 4829631 | 4829823 | 4829764 | 4829764 | Missense_Mutation | A | G | p.D2235G |
| HEC1A_ENDOMETRIUM | 4829631 | 4829823 | 4829775 | 4829775 | Missense_Mutation | C | T | p.R2239W |
| HEC1_ENDOMETRIUM | 4829631 | 4829823 | 4829775 | 4829775 | Missense_Mutation | C | T | p.R2239W |
| HEC1B_ENDOMETRIUM | 4829631 | 4829823 | 4829775 | 4829775 | Missense_Mutation | C | T | p.R2239W |
| NCIH526_LUNG | 4829631 | 4829823 | 4829793 | 4829793 | Missense_Mutation | A | G | p.N2245D |
| HT144_SKIN | 4829631 | 4829823 | 4829794 | 4829794 | Missense_Mutation | A | G | p.N2245S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4836749 | 4836871 | 4836757 | 4836757 | Missense_Mutation | G | A | p.V2258M |
| SNU1040_LARGE_INTESTINE | 4836749 | 4836871 | 4836776 | 4836776 | Missense_Mutation | G | A | p.R2264H |
| LU139_LUNG | 4836749 | 4836871 | 4836784 | 4836784 | Missense_Mutation | T | C | p.S2267P |
| SNU81_LARGE_INTESTINE | 4836749 | 4836871 | 4836803 | 4836803 | Missense_Mutation | C | T | p.S2273L |
| SNU1040_LARGE_INTESTINE | 4836749 | 4836871 | 4836827 | 4836827 | Missense_Mutation | A | G | p.N2281S |
| BB49EBV_MATCHED_NORMAL_TISSUE | 4836749 | 4836871 | 4836856 | 4836856 | Missense_Mutation | A | C | p.K2291Q |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 4836749 | 4836871 | 4836856 | 4836856 | Missense_Mutation | A | C | p.K2291Q |
| A204_SOFT_TISSUE | 4859766 | 4859926 | 4859877 | 4859877 | Missense_Mutation | A | G | p.D2645G |
| IPC298_SKIN | 4878458 | 4878619 | 4878483 | 4878483 | Missense_Mutation | G | A | p.R2670K |
| HEC251_ENDOMETRIUM | 4878458 | 4878619 | 4878492 | 4878492 | Missense_Mutation | C | T | p.A2673V |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4878458 | 4878619 | 4878522 | 4878522 | Missense_Mutation | G | A | p.G2683E |
| HEC265_ENDOMETRIUM | 4878458 | 4878619 | 4878525 | 4878525 | Missense_Mutation | A | G | p.E2684G |
| MEWO_SKIN | 4818948 | 4819058 | 4818966 | 4818966 | Nonsense_Mutation | G | T | p.E2052* |
| NCIH2286_LUNG | 4558160 | 4558267 | 4558267 | 4558267 | Splice_Site | G | A | p.G31D |
| EN_ENDOMETRIUM | 4738831 | 4738956 | 4738955 | 4738955 | Splice_Site | G | - | p.R1454fs |
| COLO678_LARGE_INTESTINE | 4808214 | 4808394 | 4808394 | 4808394 | Splice_Site | G | A | p.A1894T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITPR1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITPR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITPR1 |
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RelatedDrugs for ITPR1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q14643 | DB00201 | Caffeine | Inositol 1,4,5-trisphosphate receptor type 1 | small molecule | approved | |
| Q14643 | DB09462 | Glycerin | Inositol 1,4,5-trisphosphate receptor type 1 | small molecule | approved|investigational |
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RelatedDiseases for ITPR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ITPR1 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| ITPR1 | C0431401 | Gillespie syndrome | 2 | ORPHANET;UNIPROT |
| ITPR1 | C1847725 | SPINOCEREBELLAR ATAXIA 15 | 2 | CTD_human;ORPHANET;UNIPROT |
| ITPR1 | C1861732 | SPINOCEREBELLAR ATAXIA 29 | 2 | CTD_human;ORPHANET;UNIPROT |
| ITPR1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| ITPR1 | C1527348 | Brain Hypoxia | 1 | CTD_human |
| ITPR1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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